✦ LIBER ✦

Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer patients

✍ Scribed by Michael C. Luce; Cameron G. Binnie; Matthew C. Cayouette; Lauren N. W. Kam-Morgan

Publisher: John Wiley and Sons
Year: 1996
Tongue: French
Weight: 397 KB
Volume: 69
Category: Article
ISSN: 0020-7136
DOI: 10.1002/(sici)1097-0215(19960220)69:1<50::aid-ijc12>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mutational spectrum in these genes appears to be diverse, in both the distribution and the nature of the mutations. However, most described mutations generate a premature stop codon and ultimately result in the synthesis of a truncated protein. We have employed an in vitro transcription/translation assay to identify germline mutations in DNA mismatch repair genes from patients suspected of belonging to HNPCC kindreds. Our results suggest that this approach will be highly effective in identifying mutations in these patients and may lead to a reliable diagnostic test for the pre-symptomatic identification of HNPCC.

o I996 Wiley-Liss, Inc.

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